Canonical Allele Identifier: CA341994
Gene: TFR2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.100641198C>T
GRCh37 chr7:g.100238821C>T
Revel Score:
ENST00000223051 (MANE Select) 0.294
ENST00000431692 0.294
ENST00000462107 0.294
gnomAD v2:
7:100238821 C / T
gnomAD v3:
7:100641198 C / T
gnomAD v4:
chr7-100641198-C-T
Joint Max Group AF 0.00011911 (NFE)
Genomes Max Group AF 0.00015874 (NFE)
Exomes Max Group AF 0.00011212 (NFE)
ClinVar Allele:
34229
ClinVar RCV:
RCV000020550
ClinVar Variation:
21377
dbSNP:
80338876
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100641198C>T , CM000669.2:g.100641198C>T GRCh38
NC_000007.13:g.100238821C>T , CM000669.1:g.100238821C>T GRCh37
NC_000007.12:g.100076757C>T NCBI36
NG_007989.1:g.5353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.64G>A MANE Select ENSP00000223051.3:p.Val22Ile
ENST00000223051.7:c.64G>A ENSP00000223051.3:p.Val22Ile
ENST00000431692.5:c.64G>A ENSP00000413905.1:p.Val22Ile
ENST00000462107.1:c.64G>A ENSP00000420525.1:p.Val22Ile
ENST00000465294.5:n.69G>A
ENST00000474947.1:n.222G>A
NM_003227.3:c.64G>A NP_003218.2:p.Val22Ile
XM_005250553.3:c.64G>A XP_005250610.1:p.Val22Ile
XM_005250554.3:c.64G>A XP_005250611.1:p.Val22Ile
XM_005250553.4:c.64G>A XP_005250610.1:p.Val22Ile
XM_017012573.1:c.64G>A XP_016868062.1:p.Val22Ile
NM_003227.4:c.64G>A MANE Select NP_003218.2:p.Val22Ile
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